Objective: The rising rates of cesarean delivery (CD), which are a leading cause of intra-abdominal adhesions, represent a major concern for maternal health. We aimed to describe early maternal complications following CD in women with severe intra-abdominal adhesions.
Methods: A prospective observational study was conducted at a university-affiliated tertiary medical center (January 2021 and March 2023) in Israel.
Int J Gynaecol Obstet
December 2024
Objective: To compare adverse neonatal outcomes between trial of vaginal delivery and upfront cesarean delivery for singleton infants born at 24 to 28 weeks of gestation.
Methods: This is a retrospective cohort study that was conducted at a university-affiliated tertiary medical center between 2011 and 2022, involving singleton pregnancies delivered between 24 and 27 weeks of gestation. Participants were divided into two groups based on their intended mode of delivery: a trial of labor (TOL) group and an upfront cesarean delivery (CD) group.
Gynecol Obstet Invest
November 2024
Objective: The increasing rate of cesarean sections (CSs) raises concerns over severe intra-abdominal adhesions, which are associated with numerous complications. We aimed to identify risk factors and predictive tools for severe adhesions.
Design: A prospective study was conducted.
Arch Gynecol Obstet
November 2024
Introduction: To evaluate the effectiveness of paracetamol and ibuprofen as non-opioid treatments for postpartum pain control after vaginal delivery.
Materials And Methods: This randomized controlled study at a university-affiliated medical center involved parturient who received blindly oral tablets of either 1000 mg of paracetamol or 400 mg of ibuprofen, post-vaginal birth. Pain levels were assessed using a numeric rating scale (NRS) at four time points: before treatment, and 1, 4, and 6 h post-treatment (T0, T1, T4, and T6, respectively).
Int J Gynaecol Obstet
November 2024
Objective: To identify the key risk factors contributing to re-hospitalization after term cesarean delivery (CD).
Methods: This retrospective cohort study included women who underwent CD at term at a university-affiliated tertiary medical center (January 2021 to March 2023). The primary outcome was risk factors for re-hospitalization within 30 days post-discharge.
Background: Chromosomal microarray analysis (CMA) has been central to prenatal genetic diagnosis, detecting copy number variants with a ∼1% yield in low-risk cases. Next-generation sequencing (NGS), including exome sequencing (ES), enhances diagnostic capabilities with higher yields (8.5-10%) but at greater cost and complexity.
View Article and Find Full Text PDFPathogenic variants underlying Mendelian diseases often disrupt the normal physiology of a few tissues and organs. However, variant effect prediction tools that aim to identify pathogenic variants are typically oblivious to tissue contexts. Here we report a machine-learning framework, denoted "Tissue Risk Assessment of Causality by Expression for variants" (TRACEvar, https://netbio.
View Article and Find Full Text PDFObjective: The aim of the present study was to determine the risk factors for patients with pre-eclampsia (PE) with severe features to develop hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome and to design a prediction score model that incorporates these risk factors.
Methods: A retrospective cohort study was conducted at a tertiary university-affiliated medical center between 2011 and 2019. The study population comprised patients diagnosed with PE with severe features, divided into two groups: those with HELLP syndrome (study group) and those without (control group).
Objective: To determine risk factors and to develop a risk prediction score for intrapartum cesarean delivery (CD) in women over 40 years old.
Study Design: A retrospective cohort study, in a single university-affiliated tertiary medical center. All women aged 40 years or more who planned a trial of labor between 2012 and 2022.
Int J Gynaecol Obstet
November 2024
Purpose: To assess the prevalence, microbial profile, and clinical risk factors of maternal bacteremia associated with intrapartum fever (IPF).
Methods: A retrospective cohort study, in a single tertiary university-affiliated medical center between 2012 and 2018. Demographic and labor characteristics of women, who delivered at term (37+0/7-41+6/7) and developed bacteremia following IPF were compared to a control group of women with IPF but without bacteremia.
BMC Pregnancy Childbirth
April 2024
Background: Relaparotomy following a cesarean delivery (CD) is an infrequent complication, with inconsistency regarding risk factors and indications for its occurrence. We therefore aimed to determine risk factors and indications for a relaparotomy following a CD at a single large tertiary center.
Methods: A retrospective case-control single-center study (2013-2023).
With the increasing importance of genomic data in understanding genetic diseases, there is an essential need for efficient and user-friendly tools that simplify variant analysis. Although multiple tools exist, many present barriers such as steep learning curves, limited reference genome compatibility, or costs. We developed VARista, a free web-based tool, to address these challenges and provide a streamlined solution for researchers, particularly those focusing on rare monogenic diseases.
View Article and Find Full Text PDFEhlers-Danlos syndromes (EDS) are a group of connective tissue disorders caused by mutations in collagen and collagen-interacting genes. We delineate a novel form of EDS with vascular features through clinical and histopathological phenotyping and genetic studies of a three-generation pedigree, displaying an apparently autosomal dominant phenotype of joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time and age-related aortic dilatation and rupture. Coagulation tests as well as platelet counts and function were normal.
View Article and Find Full Text PDFKaposi sarcoma (KS), caused by Herpesvirus-8 (HHV-8; KSHV), shows sporadic, endemic, and epidemic forms. While familial clustering of KS was previously recorded, the molecular basis of hereditary predilection to KS remains largely unknown. We demonstrate through genetic studies that a dominantly inherited missense mutation in BPTF segregates with a phenotype of classical KS in multiple immunocompetent individuals in two families.
View Article and Find Full Text PDFThe biallelic variants of the POP1 gene are associated with the anauxetic dysplasia (AAD OMIM 607095), a rare skeletal dysplasia, characterized by prenatal rhizomelic shortening of limbs and generalized joint hypermobility. Affected individuals usually have normal neurodevelopmental milestones. Here we present three cases from the same family with likely pathogenic homozygous POP1 variant and a completely novel phenotype: a girl with global developmental delay and autism, microcephaly, peculiar dysmorphic features and multiple congenital anomalies.
View Article and Find Full Text PDFBackground: Sex-specific predilection in neurological diseases caused by mutations in autosomal genes is a phenomenon whose molecular basis is poorly understood. We studied females of consanguineous Bedouin kindred presenting with severe global developmental delay and epilepsy.
Methods: Linkage analysis, whole exome sequencing, generation of CRISPR/cas9 knock-in mice, mouse behaviour and molecular studies RESULTS: Linkage analysis and whole exome sequencing studies of the affected kindred delineated a ~5 Mbp disease-associated chromosome 2q35 locus, containing a novel homozygous frameshift truncating mutation in , in line with recent studies depicting similar putative loss-of-function human phenotypes with female preponderance.
This retrospective cohort study aimed to explore the association between advanced maternal age and the clinical manifestations as well as laboratory parameters of preeclampsia with severe features. This study included 452 patients who were diagnosed with preeclampsia with severe features. The clinical and laboratorial characteristics of patients with preeclampsia with severe features aged ≥40 years old (study group) were compared to those of patients aged <40 years old (control group).
View Article and Find Full Text PDFObjective: To determine perinatal outcomes following uterine rupture during a trial of labor after one previous cesarean delivery (CD) at term.
Methods: A retrospective single-center study examining perinatal outcomes in women with term singleton pregnancies with one prior CD, who underwent a trial of labor after cesarean (TOLAC) and were diagnosed with uterine rupture, between 2011 and 2022. The primary outcome was a composite maternal outcome, and the secondary outcome was a composite neonatal outcome.
Int J Gynaecol Obstet
February 2024
Objective: We aimed to determine risk factors for prolonged surgery time of cesarean delivery (CD).
Methods: We conducted a retrospective cohort study in a single tertiary university-affiliated medical center (2011-2022). The study group consisted of all women who underwent CD that lasted >90 min (representing the 95th percentile of CD length in our cohort).